ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658805084
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535870
ClinVar RCV Id:
RCV000644088
RCV002483857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg1457Trp
CA051001
NM_000548.5:c.4369C>T